Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 9

Results: 15

Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 465, doi. 10.1038/jhg.2015.95

By:

von Kodolitsch, Yskert;
Kutsche, Kerstin

Publication type:

Article

Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 485, doi. 10.1038/jhg.2015.49

By:

Sanyal, Jaya;
Jana, Arpita;
Ghosh, Epsita;
Banerjee, Tapas K;
Chakraborty, Durga P;
Rao, Vadlamudi R

Publication type:

Article

Genetic analysis of common variants in the HDAC2 gene with schizophrenia susceptibility in Han Chinese.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 479, doi. 10.1038/jhg.2015.66

By:

Chen, Gang;
Guan, Fanglin;
Lin, Huali;
Li, Lu;
Fu, Dongke

Publication type:

Article

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 509, doi. 10.1038/jhg.2015.57

By:

Fukumura, Shinobu;
Ohba, Chihiro;
Watanabe, Toshihide;
Minagawa, Kimio;
Shimura, Masaru;
Murayama, Kei;
Ohtake, Akira;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Tsutsumi, Hiroyuki

Publication type:

Article

Admixture mapping of genetic variants for uterine fibroids.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 533, doi. 10.1038/jhg.2015.60

By:

Zhang, Kui;
Wiener, Howard;
Aissani, Brahim

Publication type:

Article

Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 525, doi. 10.1038/jhg.2015.59

By:

Aiba, Yoshihiro;
Yamazaki, Keiko;
Nishida, Nao;
Kawashima, Minae;
Hitomi, Yuki;
Nakamura, Hitomi;
Komori, Atsumasa;
Fuyuno, Yuta;
Takahashi, Atsushi;
Kawaguchi, Takaaki;
Takazoe, Masakazu;
Suzuki, Yasuo;
Motoya, Satoshi;
Matsui, Toshiyuki;
Esaki, Motohiro;
Matsumoto, Takayuki;
Kubo, Michiaki;
Tokunaga, Katsushi;
Nakamura, Minoru

Publication type:

Article

Genome-wide signatures of male-mediated migration shaping the Indian gene pool.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 493, doi. 10.1038/jhg.2015.51

By:

ArunKumar, GaneshPrasad;
Tatarinova, Tatiana V;
Duty, Jeff;
Rollo, Debra;
Syama, Adhikarla;
Arun, Varatharajan Santhakumari;
Kavitha, Valampuri John;
Triska, Petr;
Greenspan, Bennett;
Wells, R Spencer;
Pitchappan, Ramasamy

Publication type:

Article

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 467, doi. 10.1038/jhg.2015.56

By:

Straniero, Letizia;
Rimoldi, Valeria;
Soldà, Giulia;
Mauri, Lucia;
Manfredini, Emanuela;
Andreucci, Elena;
Bargiacchi, Sara;
Penco, Silvana;
Gesu, Giovanni P;
Del Longo, Alessandra;
Piozzi, Elena;
Asselta, Rosanna;
Primignani, Paola

Publication type:

Article

A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 547, doi. 10.1038/jhg.2015.62

By:

Thirumalairaj, Kannan;
Abraham, Aloysius;
Devarajan, Bharanidharan;
Gaikwad, Namrata;
Kim, Usha;
Muthukkaruppan, Veerappan;
Vanniarajan, Ayyasamy

Publication type:

Article

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61

By:

Hossain, Mohammad Arif;
Higaki, Katsumi;
Saito, Seiji;
Ohno, Kazuki;
Sakuraba, Hitoshi;
Nanba, Eiji;
Suzuki, Yoshiyuki;
Ozono, Keiichi;
Sakai, Norio

Publication type:

Article

mtDNA diversity of the Zapotec in Mexico suggests a population decline long before the first contact with Europeans.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 557, doi. 10.1038/jhg.2015.55

By:

Gojobori, Jun;
Mizuno, Fuzuki;
Wang, Li;
Onishi, Keisuke;
Granados, Julio;
Gomez-Trejo, Celta;
Acuña-Alonzo, Víctor;
Ueda, Shintaroh

Publication type:

Article

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 473, doi. 10.1038/jhg.2015.65

By:

Shimokaze, Tomoyuki;
Sasaki, Ayako;
Meguro, Toru;
Hasegawa, Hisaya;
Hiraku, Yuka;
Yoshikawa, Tetsushi;
Kishikawa, Yumiko;
Hayasaka, Kiyoshi

Publication type:

Article

Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 515, doi. 10.1038/jhg.2015.58

By:

Mavroidopoulou, Vasiliki;
Xera, Ellie;
Mollaki, Vasiliki

Publication type:

Article

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53

By:

Fukami, Maki;
Naiki, Yasuhiro;
Muroya, Koji;
Hamajima, Takashi;
Soneda, Shun;
Horikawa, Reiko;
Jinno, Tomoko;
Katsumi, Momori;
Nakamura, Akie;
Asakura, Yumi;
Adachi, Masanori;
Ogata, Tsutomu;
Kanzaki, Susumu

Publication type:

Article